Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516248
rs397516248
MYH7 ; MHRT
T 0.700 CausalMutation CLINVAR A rare mutation in MYH7 gene occurs with overlapping phenotype. 25576864

2015
dbSNP: rs397516248
rs397516248
MYH7 ; MHRT
T 0.700 CausalMutation CLINVAR Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy. 24664454

2014
dbSNP: rs397516248
rs397516248
MYH7 ; MHRT
T 0.700 CausalMutation CLINVAR Myosinopathies: pathology and mechanisms. 22918376

2013
dbSNP: rs397516248
rs397516248
MYH7 ; MHRT
T 0.700 GeneticVariation CLINVAR 165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands. 19477645

2009
dbSNP: rs397516248
rs397516248
MYH7 ; MHRT
T 0.700 CausalMutation CLINVAR 165th ENMC International Workshop: distal myopathies 6-8th February 2009 Naarden, The Netherlands. 19477645

2009